CCT5 Chromosome 5
Chaperonin containing TCP1 subunit 5
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What This Gene Does
The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
Chaperonin containing TCP1
Locus Type
gene with protein product
Location
5p15.2
Ensembl
ENSG00000150753
Associated Conditions (2)
Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5-related disorder
Key Variants
RS1281493996
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS147989324
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS150870419
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, CCT5-related disorder, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS201171003
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS370529963
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS370943521
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS542323956
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS773556943
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy with spastic paraplegia, CCT5-related disorder, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
RS925661175
Likely pathogenic
Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1281493996 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS147989324 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS150870419 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, CCT5-related disorder, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS201171003 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS370529963 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS370943521 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS542323956 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS773556943 | Health Risk | Conflicting classifications of pathogenicity | Hereditary sensory and autonomic neuropathy with spastic paraplegia, CCT5-related disorder, Hereditary sensory and autonomic neuropathy with spastic paraplegia |
| RS925661175 | Health Risk | Likely pathogenic | Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia |